cDNA level identifier (n.a.):

c.(1158+1_1159-1)_(1162+1_1163-1)dup

Archive identifier/Other designation:

Dup. 1,159 1,162 [AAGT] Exon 11

Genomic location hg(19)

not available

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 n.a. (2 in total).